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CRYGB (crystallin gamma B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1419
Gene nameGene Name - the full gene name approved by the HGNC.
Crystallin gamma B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CRYGB
SynonymsGene synonyms aliases
CRYG2, CTRCT39
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.3
SummarySummary of gene provided in NCBI Entrez Gene.
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells l
Transcription factors
Transcription factor Regulation Reference
HSF1 Unknown 19250318
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IBA 21873635
GO:0005212 Function Structural constituent of eye lens IBA 21873635
GO:0005212 Function Structural constituent of eye lens NAS 12507494
GO:0005575 Component Cellular_component ND
GO:0005634 Component Nucleus IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P07316
Protein name Gamma-crystallin B (Gamma-B-crystallin) (Gamma-crystallin 1-2)
Protein function Crystallins are the dominant structural components of the vertebrate eye lens.
PDB 2JDF , 2JDG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall
3 82
Beta/Gamma crystallin
Domain
PF00030 Crystall
90 171
Beta/Gamma crystallin
Domain
Sequence
Sequence length 175
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Cataract CATARACT, ANTERIOR POLAR, CATARACT 39, MULTIPLE TYPES, Early-onset lamellar cataract, Early-onset anterior polar cataract, Total early-onset cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692 23288985, 21941057
Unknown
Disease name Disease term dbSNP ID References
Congenital cataract Congenital total cataract 23288985

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